{ "uniprot_canonical_ac": "Q01097-1", "uniprot_ac": "Q01097", "uniprot_id": "NMDE2_MOUSE", "mass": { "chemical_mass": 165959.0, "monoisotopic_mass": 165959.0 }, "refseq": { "ac": "NP_032197", "name": "glutamate receptor ionotropic, NMDA 2B precursor", "summary": "", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_032197" }, "gene_names": [ { "name": "Grin2b", "resource": "UniProtKB", "type": "recommended", "url": "https://www.uniprot.org/uniprot/Q01097", "id": "Q01097" }, { "name": "GluN2B; GluRepsilon2; Nmdar2b; NR2B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_032197", "id": "NP_032197" }, { "name": "Grin2b", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_032197", "id": "NP_032197" } ], "protein_names": [ { "name": "Glutamate receptor ionotropic, NMDA 2B", "resource": "UniProtKB", "type": "recommended", "url": "", "id": "Q01097" }, { "name": "GluN2B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q01097" }, { "name": "Glutamate [NMDA] receptor subunit epsilon-2", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q01097" }, { "name": "N-methyl D-aspartate receptor subtype 2B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q01097" }, { "name": "NMDAR2B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q01097" }, { "name": "NR2B", "resource": "UniProtKB", "type": "synonym", "url": "", "id": "Q01097" }, { "name": "glutamate [NMDA] receptor subunit epsilon-2; N-methyl D-aspartate receptor subtype 2B; glutamate receptor ionotropic, NMDA 2B", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_032197", "id": "NP_032197" }, { "name": "glutamate receptor ionotropic, NMDA 2B precursor", "resource": "RefSeq", "type": "synonym", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_032197", "id": "NP_032197" } ], "function": [ { "annotation": "A decrease in NR2B expression mediated by DNA hypermethylation induces perioperative neurocognitive disorder in aged mice.", "evidence": [ { "database": "RefSeq", "id": "NP_032197", "url": "https://www.ncbi.nlm.nih.gov/protein/NP_032197" }, { "database": "PubMed", "id": "36694341", "url": "https://glygen.org/publication/PubMed/36694341" } ] }, { "annotation": "Component of NMDA receptor complexes that function as heterotetrameric, ligand-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium. Channel activation requires binding of the neurotransmitter glutamate to the epsilon subunit, glycine binding to the zeta subunit, plus membrane depolarization to eliminate channel inhibition by Mg(2+) (PubMed:1377365, PubMed:26912815). Sensitivity to glutamate and channel kinetics depend on the subunit composition (PubMed:1377365). In concert with DAPK1 at extrasynaptic sites, acts as a central mediator for stroke damage. Its phosphorylation at Ser-1303 by DAPK1 enhances synaptic NMDA receptor channel activity inducing injurious Ca2+ influx through them, resulting in an irreversible neuronal death (PubMed:20141836). Contributes to neural pattern formation in the developing brain (PubMed:8789948). Plays a role in long-term depression (LTD) of hippocampus membrane currents and in synaptic plasticity (PubMed:8789948).", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprot/Q01097#function" }, { "database": "PubMed", "id": "20141836", "url": "https://glygen.org/publication/PubMed/20141836" }, { "database": "PubMed", "id": "26912815", "url": "https://glygen.org/publication/PubMed/26912815" }, { "database": "PubMed", "id": "1377365", "url": "https://glygen.org/publication/PubMed/1377365" }, { "database": "PubMed", "id": "8789948", "url": "https://glygen.org/publication/PubMed/8789948" } ] }, { "annotation": "Receptor for glutamate that functions as a ligand-gated ion channel in the central nervous system and plays an important role in excitatory synaptic transmission. L-glutamate acts as an excitatory neurotransmitter at many synapses in the central nervous system.", "evidence": [ { "database": "UniProtKB", "id": "G3X9V4", "url": "https://www.uniprot.org/uniprot/G3X9V4#function" }, { "database": "UniProtKB", "id": "RU367118", "url": "https://www.uniprot.org/uniprot/RU367118#function" } ] } ], "disease": [ { "disease_id": "DOID:0050696", "recommended_name": { "id": "DOID:0050696", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0050696", "name": "fetal alcohol spectrum disorder", "description": "A specific developmental disorder and physical disorder that is characterized by physical, behavioral and learning birth defects resulting from maternal ingestion of alcohol during pregnancy." }, "synonyms": [], "evidence": [ { "id": "0050696", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0050696" } ] }, { "disease_id": "DOID:0060037", "recommended_name": { "id": "DOID:0060037", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0060037", "name": "developmental disorder of mental health", "description": "A disease of mental health that occur during a child's developmental period between birth and age 18 resulting in retarding of the child's psychological or physical development." }, "synonyms": [], "evidence": [ { "id": "0060037", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0060037" } ] }, { "disease_id": "DOID:0070036", "recommended_name": { "id": "DOID:0070036", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070036", "name": "autosomal dominant intellectual developmental disorder 6", "description": "An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the GRIN2B gene on chromosome 12p13.1." }, "synonyms": [ { "id": "DOID:0070036", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070036", "name": "autosomal dominant non-syndromic intellectual disability 6", "description": "" }, { "id": "DOID:0070036", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070036", "name": "MRD6", "description": "" }, { "id": "DOID:0070036", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0070036", "name": "autosomal dominant mental retardation 6", "description": "" }, { "id": "MONDO:0013509", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013509", "name": "intellectual disability, autosomal dominant 6", "description": "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIN2B gene." }, { "id": "MONDO:0013509", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013509", "name": "GRIN2B autosomal dominant non-syndromic intellectual disability", "description": "" }, { "id": "MONDO:0013509", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013509", "name": "MRD6", "description": "" }, { "id": "MONDO:0013509", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013509", "name": "autosomal dominant intellectual disability 6", "description": "" }, { "id": "MONDO:0013509", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013509", "name": "autosomal dominant mental retardation 6", "description": "" }, { "id": "MONDO:0013509", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013509", "name": "autosomal dominant non-syndromic intellectual disability caused by mutation in GRIN2B", "description": "" }, { "id": "MONDO:0013509", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013509", "name": "intellectual developmental disorder, autosomal dominant 6, with or without seizures", "description": "" }, { "id": "MONDO:0013509", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013509", "name": "intellectual disability, autosomal dominant 6", "description": "" }, { "id": "MONDO:0013509", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013509", "name": "intellectual disability, autosomal dominant type 6", "description": "" }, { "id": "MONDO:0013509", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013509", "name": "mental retardation, autosomal dominant type 6", "description": "" }, { "id": "MONDO:0013509", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013509", "name": "autosomal dominant non-syndromic intellectual disability 6", "description": "" }, { "id": "MONDO:0013509", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013509", "name": "intellectual disability, autosomal dominant 6, with or without seizures", "description": "" }, { "id": "MONDO:0013509", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013509", "name": "mental retardation, autosomal dominant 6", "description": "" }, { "id": "MONDO:0013509", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013509", "name": "mental retardation, autosomal dominant 6, with or without seizures", "description": "" }, { "id": "MIM:613970", "resource": "MIM", "url": "https://www.omim.org/entry/613970", "name": "Intellectual developmental disorder, autosomal dominant 6, with or without seizures", "description": "Intellectual developmental disorder, autosomal dominant 6, with or without seizures" } ], "evidence": [ { "id": "0070036", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0070036" } ] }, { "disease_id": "DOID:0080444", "recommended_name": { "id": "DOID:0080444", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080444", "name": "developmental and epileptic encephalopathy 27", "description": "A developmental and epileptic encephalopathy characterized by early onset seizures, delayed psychomotor development and intellectual disability with variable severity that has_material_basis_in heterozygous mutation in the GRIN2B gene on chromosome 12p12." }, "synonyms": [ { "id": "DOID:0080444", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080444", "name": "early infantile epileptic encephalopathy 27", "description": "" }, { "id": "DOID:0080444", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:0080444", "name": "DEE27", "description": "" }, { "id": "MONDO:0014505", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014505", "name": "developmental and epileptic encephalopathy, 27", "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2B gene." }, { "id": "MONDO:0014505", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014505", "name": "DEE27", "description": "" }, { "id": "MONDO:0014505", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014505", "name": "EIEE27", "description": "" }, { "id": "MONDO:0014505", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014505", "name": "GRIN2B early infantile epileptic encephalopathy", "description": "" }, { "id": "MONDO:0014505", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014505", "name": "developmental and epileptic encephalopathy 27", "description": "" }, { "id": "MONDO:0014505", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014505", "name": "early infantile epileptic encephalopathy caused by mutation in GRIN2B", "description": "" }, { "id": "MONDO:0014505", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014505", "name": "epileptic encephalopathy, early infantile, 27", "description": "" }, { "id": "MONDO:0014505", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014505", "name": "epileptic encephalopathy, early infantile, type 27", "description": "" }, { "id": "MIM:616139", "resource": "MIM", "url": "https://www.omim.org/entry/616139", "name": "Developmental and epileptic encephalopathy 27", "description": "Developmental and epileptic encephalopathy 27" } ], "evidence": [ { "id": "0080444", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:0080444" } ] }, { "disease_id": "DOID:10584", "recommended_name": { "id": "DOID:10584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10584", "name": "retinitis pigmentosa", "description": "A retinal degeneration characterized by the gradual deterioration of the photoreceptors or the retinal pigment epithelium of the retina leading to progressive sight loss." }, "synonyms": [ { "id": "DOID:10584", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10584", "name": "pericentral pigmentary retinopathy", "description": "" }, { "id": "MONDO:0019200", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019200", "name": "retinitis pigmentosa", "description": "Retinitis pigmentosa (RP) is an inherited retinal dystrophy leading to progressive loss of the photoreceptors and retinal pigment epithelium and resulting in blindness usually after several decades." }, { "id": "MONDO:0019200", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019200", "name": "retinitis pigmentosa", "description": "" }, { "id": "MONDO:0019200", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019200", "name": "pericentral pigmentary retinopathy", "description": "" }, { "id": "MONDO:0019200", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0019200", "name": "Rod-cone dystrophy", "description": "" }, { "id": "MIM:268000", "resource": "MIM", "url": "https://www.omim.org/entry/268000", "name": "Retinitis pigmentosa", "description": "Retinitis pigmentosa" } ], "evidence": [ { "id": "10584", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10584" } ] }, { "disease_id": "DOID:10652", "recommended_name": { "id": "DOID:10652", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10652", "name": "Alzheimer's disease", "description": "A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid." }, "synonyms": [ { "id": "DOID:10652", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10652", "name": "Alzheimer disease", "description": "" }, { "id": "DOID:10652", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:10652", "name": "Alzheimers dementia", "description": "" } ], "evidence": [ { "id": "10652", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:10652" } ] }, { "disease_id": "DOID:1094", "recommended_name": { "id": "DOID:1094", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1094", "name": "attention deficit hyperactivity disorder", "description": "A specific developmental disorder that is characterized by co-existence of attentional problems and hyperactivity, with each behavior occurring infrequently alone and symptoms starting before seven years of age." }, "synonyms": [ { "id": "DOID:1094", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1094", "name": "ADHD", "description": "" }, { "id": "DOID:1094", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1094", "name": "attention deficit disorder", "description": "" }, { "id": "DOID:1094", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1094", "name": "hyperkinetic disorder", "description": "" }, { "id": "MONDO:0012151", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012151", "name": "attention deficit-hyperactivity disorder, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012151", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012151", "name": "ADHD3", "description": "" }, { "id": "MONDO:0012151", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012151", "name": "attention Deficit-hyperactivity disorder, susceptibility to, type 3", "description": "" }, { "id": "MONDO:0012151", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012151", "name": "attention deficit-hyperactivity disorder, susceptibility to, 3", "description": "" }, { "id": "MONDO:0012150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012150", "name": "attention deficit-hyperactivity disorder, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012150", "name": "ADHD2", "description": "" }, { "id": "MONDO:0012150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012150", "name": "attention Deficit-hyperactivity disorder, susceptibility to, type 2", "description": "" }, { "id": "MONDO:0012150", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012150", "name": "attention deficit-hyperactivity disorder, susceptibility to, 2", "description": "" }, { "id": "MONDO:0012149", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012149", "name": "attention deficit-hyperactivity disorder, susceptibility to, 1", "description": "" }, { "id": "MONDO:0012149", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012149", "name": "ADHD1", "description": "" }, { "id": "MONDO:0012149", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012149", "name": "attention deficit-hyperactivity disorder, susceptibility to, 1", "description": "" }, { "id": "MONDO:0012149", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012149", "name": "attention deficit-hyperactivity disorder, susceptibility to, type 1", "description": "" }, { "id": "MONDO:0012152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012152", "name": "attention deficit-hyperactivity disorder, susceptibility to, 4", "description": "" }, { "id": "MONDO:0012152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012152", "name": "ADHD4", "description": "" }, { "id": "MONDO:0012152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012152", "name": "attention Deficit-hyperactivity disorder, susceptibility to, type 4", "description": "" }, { "id": "MONDO:0012152", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012152", "name": "attention deficit-hyperactivity disorder, susceptibility to, 4", "description": "" }, { "id": "MONDO:0100518", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0100518", "name": "hereditary attention deficit-hyperactivity disorder", "description": "An instance of attention deficit-hyperactivity disorder that is caused by an inherited genomic modification in an individual." }, { "id": "MONDO:0012863", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012863", "name": "attention deficit-hyperactivity disorder, susceptibility to, 6", "description": "" }, { "id": "MONDO:0012863", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012863", "name": "ADHD6", "description": "" }, { "id": "MONDO:0012863", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012863", "name": "attention Deficit-hyperactivity disorder, susceptibility to, type 6", "description": "" }, { "id": "MONDO:0012863", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012863", "name": "attention deficit-hyperactivity disorder, susceptibility to, 6", "description": "" }, { "id": "MONDO:0012863", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012863", "name": "digit span quantitative trait locus", "description": "" }, { "id": "MONDO:0012862", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012862", "name": "attention deficit-hyperactivity disorder, susceptibility to, 5", "description": "" }, { "id": "MONDO:0012862", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012862", "name": "ADHD5", "description": "" }, { "id": "MONDO:0012862", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012862", "name": "attention Deficit-hyperactivity disorder, susceptibility to, type 5", "description": "" }, { "id": "MONDO:0012862", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012862", "name": "attention deficit-hyperactivity disorder, susceptibility to, 5", "description": "" }, { "id": "MONDO:0012862", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0012862", "name": "motor timing quantitative trait locus", "description": "" } ], "evidence": [ { "id": "1094", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1094" } ] }, { "disease_id": "DOID:11446", "recommended_name": { "id": "DOID:11446", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:11446", "name": "sciatic neuropathy", "description": "" }, "synonyms": [], "evidence": [ { "id": "11446", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:11446" } ] }, { "disease_id": "DOID:12858", "recommended_name": { "id": "DOID:12858", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12858", "name": "Huntington's disease", "description": "A neurodegenerative disease that has_material_basis_in autosomal dominant inheritance and is characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia and has_material_basis_in expansion of CAG triplet repeats (glutamine) resulting in neuron degeneration affecting muscle coordination, cognitive abilities." }, "synonyms": [ { "id": "DOID:12858", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12858", "name": "HD", "description": "" }, { "id": "DOID:12858", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12858", "name": "Huntington disease", "description": "" }, { "id": "DOID:12858", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:12858", "name": "Huntington's chorea", "description": "" }, { "id": "MONDO:0007739", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007739", "name": "Huntington disease", "description": "Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia." }, { "id": "MONDO:0007739", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007739", "name": "HD", "description": "" }, { "id": "MONDO:0007739", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007739", "name": "Huntington chorea", "description": "" }, { "id": "MONDO:0007739", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007739", "name": "Huntington disease", "description": "" }, { "id": "MONDO:0007739", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007739", "name": "Huntington's chorea", "description": "" }, { "id": "MONDO:0007739", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0007739", "name": "Huntington's disease", "description": "" }, { "id": "MIM:143100", "resource": "MIM", "url": "https://www.omim.org/entry/143100", "name": "Huntington disease", "description": "Huntington disease" } ], "evidence": [ { "id": "12858", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:12858" } ] }, { "disease_id": "DOID:1561", "recommended_name": { "id": "DOID:1561", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1561", "name": "cognitive disorder", "description": "A disease of mental health that affects cognitive functions including memory processing, perception and problem solving." }, "synonyms": [ { "id": "DOID:1561", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1561", "name": "cognitive disease", "description": "" } ], "evidence": [ { "id": "1561", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1561" } ] }, { "disease_id": "DOID:1574", "recommended_name": { "id": "DOID:1574", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1574", "name": "alcohol use disorder", "description": "A substance abuse that involves the recurring use of alcoholic beverages despite negative consequences." }, "synonyms": [ { "id": "DOID:1574", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1574", "name": "Ethanol abuse", "description": "" }, { "id": "DOID:1574", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1574", "name": "alcohol abuse", "description": "" } ], "evidence": [ { "id": "1574", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1574" } ] }, { "disease_id": "DOID:1826", "recommended_name": { "id": "DOID:1826", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1826", "name": "epilepsy", "description": "A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions." }, "synonyms": [ { "id": "DOID:1826", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1826", "name": "epilepsy syndrome", "description": "" }, { "id": "DOID:1826", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:1826", "name": "epileptic syndrome", "description": "" } ], "evidence": [ { "id": "1826", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:1826" } ] }, { "disease_id": "DOID:3312", "recommended_name": { "id": "DOID:3312", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3312", "name": "bipolar disorder", "description": "A mood disorder that involves alternating periods of mania and depression." }, "synonyms": [ { "id": "DOID:3312", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3312", "name": "Manic Bipolar Affective disorder", "description": "" }, { "id": "DOID:3312", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3312", "name": "Manic Depressive disorder", "description": "" }, { "id": "DOID:3312", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3312", "name": "Manic bipolar I disorder", "description": "" }, { "id": "DOID:3312", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3312", "name": "bipolar depression", "description": "" }, { "id": "DOID:3312", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3312", "name": "bipolar disorder manic phase", "description": "" }, { "id": "DOID:3312", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3312", "name": "manic depression", "description": "" }, { "id": "DOID:3312", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3312", "name": "manic disorder", "description": "" }, { "id": "DOID:3312", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3312", "name": "mixed bipolar disorder", "description": "" } ], "evidence": [ { "id": "3312", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3312" } ] }, { "disease_id": "DOID:3328", "recommended_name": { "id": "DOID:3328", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3328", "name": "temporal lobe epilepsy", "description": "A focal epilepsy that is characterized by recurrent, unprovoked focal seizures that originate in the temporal lobe of the brain and last about one or two minutes." }, "synonyms": [ { "id": "DOID:3328", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3328", "name": "epilepsy, temporal lobe", "description": "" }, { "id": "MONDO:0700090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700090", "name": "epilepsy, familial temporal lobe, 1", "description": "An autosomal dominant condition caused by mutation(s) in the LGI1 gene, encoding leucine-rich glioma-inactivated protein 1. It is characterized by partial seizures originating in the temporal lobe and often accompanied by auditory sensory manifestations." }, { "id": "MONDO:0700090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700090", "name": "ETL1", "description": "" }, { "id": "MONDO:0700090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700090", "name": "epilepsy, familial temporal lobe, type 1", "description": "" }, { "id": "MONDO:0700090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700090", "name": "epilepsy, lateral temporal lobe, autosomal dominant", "description": "" }, { "id": "MONDO:0700090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0700090", "name": "epilepsy, partial, with auditory features", "description": "" }, { "id": "MIM:600512", "resource": "MIM", "url": "https://www.omim.org/entry/600512", "name": "Epilepsy, familial temporal lobe, 1", "description": "Epilepsy, familial temporal lobe, 1" } ], "evidence": [ { "id": "3328", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3328" } ] }, { "disease_id": "DOID:3891", "recommended_name": { "id": "DOID:3891", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:3891", "name": "placental insufficiency", "description": "A placenta disease that is characterized by insufficient blood flow to the placenta during pregnancy." }, "synonyms": [], "evidence": [ { "id": "3891", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:3891" } ] }, { "disease_id": "DOID:4377", "recommended_name": { "id": "DOID:4377", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4377", "name": "egg allergy", "description": "A food allergy that is an allergy or hypersensitivity to dietary substances from the yolk or whites of eggs, causing an overreaction of the immune system which may lead to severe physical symptoms." }, "synonyms": [ { "id": "DOID:4377", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:4377", "name": "Allergy to eggs", "description": "" } ], "evidence": [ { "id": "4377", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:4377" } ] }, { "disease_id": "DOID:5419", "recommended_name": { "id": "DOID:5419", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5419", "name": "schizophrenia", "description": "A psychotic disorder that is characterized by a disintegration of thought processes and of emotional responsiveness." }, "synonyms": [ { "id": "DOID:5419", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:5419", "name": "schizophrenia-1", "description": "" }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "schizophrenia", "description": "A major psychotic disorder characterized by abnormalities in the perception or expression of reality. It affects the cognitive and psychomotor functions. Common clinical signs and symptoms include delusions, hallucinations, disorganized thinking, and retreat from reality." }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "schizophrenia 12", "description": "" }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "schizophrenia", "description": "" }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "schizophrenia (disease)", "description": "" }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "schizophrenia-1", "description": "" }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "SCZD", "description": "" }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "schizoaffective disorder", "description": "" }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "schizophrenia with or without an affective disorder", "description": "" }, { "id": "MONDO:0005090", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0005090", "name": "schizophrenia, susceptibility to", "description": "" }, { "id": "MIM:181500", "resource": "MIM", "url": "https://www.omim.org/entry/181500", "name": "Schizophrenia", "description": "Schizophrenia" } ], "evidence": [ { "id": "5419", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:5419" } ] }, { "disease_id": "DOID:8725", "recommended_name": { "id": "DOID:8725", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8725", "name": "vascular dementia", "description": "A dementia that involves impairments in cognitive function caused by problems in blood vessels that feed the brain." }, "synonyms": [ { "id": "DOID:8725", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8725", "name": "Multi Infarct Dementia", "description": "" }, { "id": "DOID:8725", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:8725", "name": "multifocal dementia", "description": "" } ], "evidence": [ { "id": "8725", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:8725" } ] }, { "disease_id": "DOID:9279", "recommended_name": { "id": "DOID:9279", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9279", "name": "hyperhomocysteinemia", "description": "An amino acid metabolic disorder that involves an abnormally large level of homocysteine in the blood." }, "synonyms": [ { "id": "MONDO:0004743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0004743", "name": "hyperhomocysteinemia", "description": "A serious metabolic condition caused by mutations in the MTHFR gene, medications, or nutritional deficiency. It results in increased levels of homocysteine in the blood. Patients with this condition are at an increased risk for recurrent blood clots formation and cardiovascular accidents." }, { "id": "MONDO:0004743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0004743", "name": "homocysteinemia", "description": "" }, { "id": "MONDO:0004743", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0004743", "name": "hyperhomocysteinemia", "description": "" } ], "evidence": [ { "id": "9279", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9279" } ] }, { "disease_id": "DOID:9993", "recommended_name": { "id": "DOID:9993", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9993", "name": "hypoglycemia", "description": "A glucose metabolism disease that is characterized by abnormally low levels of blood glucose." }, "synonyms": [ { "id": "DOID:9993", "resource": "Disease Ontology", "url": "http://disease-ontology.org/term/DOID:9993", "name": "Hypoglycaemia", "description": "" } ], "evidence": [ { "id": "9993", "database": "Alliance of Genome Resources", "url": "https://www.alliancegenome.org/disease/DOID:9993" } ] } ], "snv": [ { "evidence": [ { "id": "rs3388867622", "database": "dbSNP", "url": "https://www.ncbi.nlm.nih.gov/SNP/snp_ref.cgi?type=rs&rs=rs3388867622" } ], "glycoeffect": [ "n-glyco-sequon-gain", "o-glyco-site-loss" ], "start_pos": 330, "end_pos": 330, "sequence_org": "Y", "sequence_mut": "N", "comment": "Germline mutation passed 1 out of 1 filters: n-glyco-sequon-gain (YQS->NQS).", "chr_id": "6", "chr_pos": "135899892", "ref_nt": "T", "alt_nt": "null", "minor_allelic_frequency": "", "site_lbl": "Y330", "keywords": [ "ebi", "germline" ] } ], "mutagenesis": [], "expression_tissue": [], "expression_disease": [], "species": [ { "name": "Mus musculus", "taxid": 10090, "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprot/Q01097" } ], "common_name": "Mouse" } ], 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"url": "https://www.uniprot.org/uniprot/A0A0G2JEA7-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3X9V4", "url": "https://www.uniprot.org/uniprot/G3X9V4", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "G3X9V4-1", "url": "https://www.uniprot.org/uniprot/G3X9V4-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q01097", "url": "https://www.uniprot.org/uniprot/Q01097", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q01097-1", "url": "https://www.uniprot.org/uniprot/Q01097-1", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8CG69", "url": "https://www.uniprot.org/uniprot/Q8CG69", "database": "UniProtKB", "categories": [ "Protein" ] }, { "id": "Q8CG69-1", "url": "https://www.uniprot.org/uniprot/Q8CG69-1", "database": "UniProtKB", "categories": [ "Protein" ] } ], "sequence": { "sequence": "MKPSAECCSPKFWLVLAVLAVSGSKARSQKSAPSIGIAVILVGTSDEVAIKDAHEKDDFHHLSVVPRVELVAMNETDPKSIITRICDLMSDRKIQGVVLADDTDQEAIAQILDFISAQTLTPILGIHGGSSMIMADKDESSMFFQFGPSIEQQASVMLNIMEEYDWYIFSIVTTYFPGYQDFVNKIRSTIENSFVGWELEEVLLLDMSLDDGDSKIQNQLKKLQSPIILLYCTKEEATYIFEVANSVGLTGYGYTWIVPSLVAGDTDTVPSEFPTGLISVSYDEWDYGLPARVRDGIAIITTAASDMLSEHSFIPEPKSSCYNTHEKRIYQSNMLNRYLINVTFEGRNLSFSEDGYQMHPKLVIILLNKERKWERVGKWKDKSLQMKYYVWPRMCPETEEQEDDHLSIVTLEEAPFVIVESVDPLSGTCMRNTVPCQKRIISENKTDEEPGYIKKCCKGFCIDILKKISKSVKFTYDLYLVTNGKHGKKINGTWNGMIGEVVMKRAYMAVGSLTINEERSEVVDFSVPFIETGISVMVSRSNGTVSPSAFLEPFSADVWVMMFVMLLIVSAVAVFVFEYFSPVGYNRCLADGREPGGPSFTIGKAIWLLWGLVFNNSVPVQNPKGTTSKIMVSVWAFFAVIFLASYTANLAAFMIQEEYVDQVSGLSDKKFQRPNDFSPPFRFGTVPNGSTERNIRNNYAEMHAYMGKFNQRGVDDALLSLKTGKLDAFIYDAAVLNYMAGRDEGCKLVTIGSGKVFASTGYGIAIQKDSGWKRQVDLAILQLFGDGEMEELEALWLTGICHNEKNEVMSSQLDIDNMAGVFYMLGAAMALSLITFICEHLFYWQFRHCFMGVCSGKPGMVFSISRGIYSCIHGVAIEERQSVMNSPTATMNNTHSNILRLLRTAKNMANLSGVNGSPQSALDFIRRESSVYDISEHRRSFTHSDCKSYNNPPCEENLFSDYISEVERTFGNLQLKDSNVYQDHYHHHHRPHSIGSTSSIDGLYDCDNPPFTTQPRSISKKPLDIGLPSSKHSQLSDLYGKFSFKSDRYSGHDDLIRSDVSDISTHTVTYGNIEGNAAKRRKQQYKDSLKKRPASAKSRREFDEIELAYRRRPPRSPDHKRYFRDKEGLRDFYLDQFRTKENSPHWEHVDLTDIYKERSDDFKRDSVSGGGPCTNRSHLKHGTGDKHGVVGGVPAPWEKNLTNVDWEDRSGGNFCRSCPSKLHNYSSTVAGQNSGRQACIRCEACKKAGNLYDISEDNSLQELDQPAAPVAVSSNASTTKYPQSPTNSKAQKKNRNKLRRQHSYDTFVDLQKEEAALAPRSVSLKDKGRFMDGSPYAHMFEMPAGESSFANKSSVTTAGHHHNNPGSGYMLSKSLYPDRVTQNPFIPTFGDDQCLLHGSKSYFFRQPTVAGASKTRPDFRALVTNKPVVSALHGAVPGRFQKDICIGNQSNPCVPNNKNPRAFNGSSNGHVYEKLSSIESDV", "length": 1482, "header": "sp|Q01097-1|NMDE2_MOUSE Isoform 1 of Glutamate receptor ionotropic, NMDA 2B OS=Mus musculus OX=10090 GN=Grin2b PE=1 SV=3 CANONICAL=Q01097-1" }, "isoforms": [ { "isoform_ac": "A0A087WR33-1", "url": "", "sequence": { "sequence": "MKPSAECCSPKFWLVLAVLAVSGSKARSQKSAPSIG", "length": 36, "header": "tr|A0A087WR33-1|A0A087WR33_MOUSE Computationally mapped isoform of Glutamate receptor, ionotropic, NMDA2B (epsilon 2) OS=Mus musculus OX=10090 GN=Grin2b PE=4 SV=2 CANONICAL=Q01097-1" }, "locus": { "chromosome": "6", "start_pos": 136021299, "end_pos": 136021192, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000188999.3", "url": "https://www.ensembl.org/id/ENSMUST00000188999.3" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000140452.3", "url": "https://www.ensembl.org/id/ENSMUSP00000140452.3" } ] } }, { "isoform_ac": "A0A0G2JEA7-1", "url": "", "sequence": { "sequence": "MKPSAECCSPKFWLVLAVLAVSGSKARSQKSAPSIGIAVILVGTSDEVAIKDAHEKDDFHHLSVVPRVELVAMNETDPKSIITRICDLMSDRKIQGVVFADDTDQEAIAQILDFISAQTLTPILGIHGGSSMIMADKDESSMFFQFGPSIEQQASVMLNIMEEYDWYIFSIVTTYFPGYQDFVNKIRSTIENSFVGWELEEVLLLDMSLDDGDSKIQNQLKKLQSPIILLYCTKEEATYIFEVANSVGLTGYGYTWIVPSLVAGDTDTVPSEFPTGLISVSYDEWDYGLPARVRDGIAIITTAASDMLSEHSFIPEPKSSCYNTHEKRIYQSNMLNR", "length": 337, "header": "tr|A0A0G2JEA7-1|A0A0G2JEA7_MOUSE Computationally mapped isoform of Glutamate receptor, ionotropic, NMDA2B (epsilon 2) OS=Mus musculus OX=10090 GN=Grin2b PE=1 SV=1 CANONICAL=Q01097-1" }, "locus": { "chromosome": "6", "start_pos": 136021299, "end_pos": 135847388, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000152012.8", "url": "https://www.ensembl.org/id/ENSMUST00000152012.8" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000142696.2", "url": "https://www.ensembl.org/id/ENSMUSP00000142696.2" } ] } }, { "isoform_ac": "G3X9V4-1", "url": "", "sequence": { "sequence": "MKPSAECCSPKFWLVLAVLAVSGSKARSQKSAPSIGIAVILVGTSDEVAIKDAHEKDDFHHLSVVPRVELVAMNETDPKSIITRICDLMSDRKIQGVVFADDTDQEAIAQILDFISAQTLTPILGIHGGSSMIMADKDESSMFFQFGPSIEQQASVMLNIMEEYDWYIFSIVTTYFPGYQDFVNKIRSTIENSFVGWELEEVLLLDMSLDDGDSKIQNQLKKLQSPIILLYCTKEEATYIFEVANSVGLTGYGYTWIVPSLVAGDTDTVPSEFPTGLISVSYDEWDYGLPARVRDGIAIITTAASDMLSEHSFIPEPKSSCYNTHEKRIYQSNMLNRYLINVTFEGRNLSFSEDGYQMHPKLVIILLNKERKWERVGKWKDKSLQMKYYVWPRMCPETEEQEDDHLSIVTLEEAPFVIVESVDPLSGTCMRNTVPCQKRIISENKTDEEPGYIKKCCKGFCIDILKKISKSVKFTYDLYLVTNGKHGKKINGTWNGMIGEVVMKRAYMAVGSLTINEERSEVVDFSVPFIETGISVMVSRSNGTVSPSAFLEPFSADVWVMMFVMLLIVSAVAVFVFEYFSPVGYNRCLADGREPGGPSFTIGKAIWLLWGLVFNNSVPVQNPKGTTSKIMVSVWAFFAVIFLASYTANLAAFMIQEEYVDQVSGLSDKKFQRPNDFSPPFRFGTVPNGSTERNIRNNYAEMHAYMGKFNQRGVDDALLSLKTGKLDAFIYDAAVLNYMAGRDEGCKLVTIGSGKVFASTGYGIAIQKDSGWKRQVDLAILQLFGDGEMEELEALWLTGICHNEKNEVMSSQLDIDNMAGVFYMLGAAMALSLITFICEHLFYWQFRHCFMGVCSGKPGMVFSISRGIYSCIHGVAIEERQSVMNSPTATMNNTHSNILRLLRTAKNMANLSGVNGSPQSALDFIRRESSVYDISEHRRSFTHSDCKSYNNPPCEENLFSDYISEVERTFGNLQLKDSNVYQDHYHHHHRPHSIGSTSSIDGLYDCDNPPFTTQPRSISKKPLDIGLPSSKHSQLSDLYGKFSFKSDRYSGHDDLIRSDVSDISTHTVTYGNIEGNAAKRRKQQYKDSLKKRPASAKSRREFDEIELAYRRRPPRSPDHKRYFRDKEGLRDFYLDQFRTKENSPHWEHVDLTDIYKERSDDFKRDSVSGGGPCTNRSHLKHGTGDKHGVVGGVPAPWEKNLTNVDWEDRSGGNFCRSCPSKLHNYSSTVAGQNSGRQACIRCEACKKAGNLYDISEDNSLQELDQPAAPVAVSSNASTTKYPQSPTNSKAQKKNRNKLRRQHSYDTFVDLQKEEAALAPRSVSLKDKGRFMDGSPYAHMFEMPAGESSFANKSSVTTAGHHHNNPGSGYMLSKSLYPDRVTQNPFIPTFGDDQCLLHGSKSYFFRQPTVAGASKTRPDFRALVTNKPVVSALHGAVPGRFQKDICIGNQSNPCVPNNKNPRAFNGSSNGHVYEKLSSIESDV", "length": 1482, "header": "tr|G3X9V4-1|G3X9V4_MOUSE Computationally mapped isoform of Glutamate receptor OS=Mus musculus OX=10090 GN=Grin2b PE=1 SV=1 CANONICAL=Q01097-1" }, "locus": { "chromosome": "6", "start_pos": 136021299, "end_pos": 135709099, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000053880.13", "url": "https://www.ensembl.org/id/ENSMUST00000053880.13" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000062284.6", "url": "https://www.ensembl.org/id/ENSMUSP00000062284.6" } ] } }, { "isoform_ac": "Q01097-1", "url": "", "sequence": { "sequence": "MKPSAECCSPKFWLVLAVLAVSGSKARSQKSAPSIGIAVILVGTSDEVAIKDAHEKDDFHHLSVVPRVELVAMNETDPKSIITRICDLMSDRKIQGVVLADDTDQEAIAQILDFISAQTLTPILGIHGGSSMIMADKDESSMFFQFGPSIEQQASVMLNIMEEYDWYIFSIVTTYFPGYQDFVNKIRSTIENSFVGWELEEVLLLDMSLDDGDSKIQNQLKKLQSPIILLYCTKEEATYIFEVANSVGLTGYGYTWIVPSLVAGDTDTVPSEFPTGLISVSYDEWDYGLPARVRDGIAIITTAASDMLSEHSFIPEPKSSCYNTHEKRIYQSNMLNRYLINVTFEGRNLSFSEDGYQMHPKLVIILLNKERKWERVGKWKDKSLQMKYYVWPRMCPETEEQEDDHLSIVTLEEAPFVIVESVDPLSGTCMRNTVPCQKRIISENKTDEEPGYIKKCCKGFCIDILKKISKSVKFTYDLYLVTNGKHGKKINGTWNGMIGEVVMKRAYMAVGSLTINEERSEVVDFSVPFIETGISVMVSRSNGTVSPSAFLEPFSADVWVMMFVMLLIVSAVAVFVFEYFSPVGYNRCLADGREPGGPSFTIGKAIWLLWGLVFNNSVPVQNPKGTTSKIMVSVWAFFAVIFLASYTANLAAFMIQEEYVDQVSGLSDKKFQRPNDFSPPFRFGTVPNGSTERNIRNNYAEMHAYMGKFNQRGVDDALLSLKTGKLDAFIYDAAVLNYMAGRDEGCKLVTIGSGKVFASTGYGIAIQKDSGWKRQVDLAILQLFGDGEMEELEALWLTGICHNEKNEVMSSQLDIDNMAGVFYMLGAAMALSLITFICEHLFYWQFRHCFMGVCSGKPGMVFSISRGIYSCIHGVAIEERQSVMNSPTATMNNTHSNILRLLRTAKNMANLSGVNGSPQSALDFIRRESSVYDISEHRRSFTHSDCKSYNNPPCEENLFSDYISEVERTFGNLQLKDSNVYQDHYHHHHRPHSIGSTSSIDGLYDCDNPPFTTQPRSISKKPLDIGLPSSKHSQLSDLYGKFSFKSDRYSGHDDLIRSDVSDISTHTVTYGNIEGNAAKRRKQQYKDSLKKRPASAKSRREFDEIELAYRRRPPRSPDHKRYFRDKEGLRDFYLDQFRTKENSPHWEHVDLTDIYKERSDDFKRDSVSGGGPCTNRSHLKHGTGDKHGVVGGVPAPWEKNLTNVDWEDRSGGNFCRSCPSKLHNYSSTVAGQNSGRQACIRCEACKKAGNLYDISEDNSLQELDQPAAPVAVSSNASTTKYPQSPTNSKAQKKNRNKLRRQHSYDTFVDLQKEEAALAPRSVSLKDKGRFMDGSPYAHMFEMPAGESSFANKSSVTTAGHHHNNPGSGYMLSKSLYPDRVTQNPFIPTFGDDQCLLHGSKSYFFRQPTVAGASKTRPDFRALVTNKPVVSALHGAVPGRFQKDICIGNQSNPCVPNNKNPRAFNGSSNGHVYEKLSSIESDV", "length": 1482, "header": "sp|Q01097-1|NMDE2_MOUSE Isoform 1 of Glutamate receptor ionotropic, NMDA 2B OS=Mus musculus OX=10090 GN=Grin2b PE=1 SV=3 CANONICAL=Q01097-1" }, "locus": {} }, { "isoform_ac": "Q8CG69-1", "url": "", "sequence": { "sequence": "MKPSAECCSPKFWLVLAVLAVSGSKARSQKSAPSI", "length": 35, "header": "tr|Q8CG69-1|Q8CG69_MOUSE Computationally mapped isoform of N-methyl D-aspartate receptor 2B OS=Mus musculus OX=10090 GN=Grin2b PE=2 SV=1 CANONICAL=Q01097-1" }, "locus": { "chromosome": "6", "start_pos": 136021299, "end_pos": 136021195, "strand": "+", "evidence": [ { "database": "Ensembl Transcript", "id": "ENSMUST00000125905.2", "url": "https://www.ensembl.org/id/ENSMUST00000125905.2" }, { "database": "Ensembl Peptide", "id": "ENSMUSP00000139706.2", "url": "https://www.ensembl.org/id/ENSMUSP00000139706.2" } ] } } ], "glycosylation": [ { "glytoucan_ac": "G49108TO", "type": "O-linked", "subtype": "O-GlcNAcylation", "site_category": "reported_with_glycan", "site_seq": "S", "relation": "attached", "comment": "O-GlcNAcylation", "start_pos": 1030, "start_aa": "Ser", "end_pos": 1030, "end_aa": "Ser", "residue": "Ser", "site_lbl": "Ser1030", "evidence": [ { "id": "Q01097", "database": "O-GlcNAc Atlas", "url": "https://oglcnac.org/atlas/detail/Q01097" }, { "id": "22645316", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/22645316" } ] }, { "glytoucan_ac": "G05724UK", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 341, "start_aa": "Asn", "end_pos": 341, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn341", "evidence": [ { "id": "2351", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2351" }, { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" } ] }, { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 341, "start_aa": "Asn", "end_pos": 341, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn341", "evidence": [ { "id": "2351", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2351" }, { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" } ] }, { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 341, "start_aa": "Asn", "end_pos": 341, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn341", "evidence": [ { "id": "2351", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2351" }, { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" } ] }, { "glytoucan_ac": "G66538GV", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 341, "start_aa": "Asn", "end_pos": 341, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn341", "evidence": [ { "id": "2351", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2351" }, { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 341, "start_aa": "Asn", "end_pos": 341, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn341", "evidence": [ { "id": "Q01097", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q01097#ptm_processing" } ] }, { "glytoucan_ac": "G05724UK", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 348, "start_aa": "Asn", "end_pos": 348, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn348", "evidence": [ { "id": "2351", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2351" }, { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" } ] }, { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 348, "start_aa": "Asn", "end_pos": 348, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn348", "evidence": [ { "id": "2351", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2351" }, { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" } ] }, { "glytoucan_ac": "G39188ZX", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 348, "start_aa": "Asn", "end_pos": 348, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn348", "evidence": [ { "id": "2351", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2351" }, { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 348, "start_aa": "Asn", "end_pos": 348, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn348", "evidence": [ { "id": "Q01097", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q01097#ptm_processing" } ] }, { "glytoucan_ac": "G10256JP", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 444, "start_aa": "Asn", "end_pos": 444, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn444", "evidence": [ { "id": "2351", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2351" }, { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" } ] }, { "glytoucan_ac": "G14994KB", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 444, "start_aa": "Asn", "end_pos": 444, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn444", "evidence": [ { "id": "2351", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2351" }, { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" } ] }, { "glytoucan_ac": "G64527OM", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 444, "start_aa": "Asn", "end_pos": 444, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn444", "evidence": [ { "id": "2351", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2351" }, { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" } ] }, { "glytoucan_ac": "G70101JE", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 444, "start_aa": "Asn", "end_pos": 444, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn444", "evidence": [ { "id": "2351", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2351" }, { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 444, "start_aa": "Asn", "end_pos": 444, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn444", "evidence": [ { "id": "Q01097", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q01097#ptm_processing" } ] }, { "glytoucan_ac": "G06110VR", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 491, "start_aa": "Asn", "end_pos": 491, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn491", "evidence": [ { "id": "2351", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2351" }, { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "reported", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 491, "start_aa": "Asn", "end_pos": 491, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn491", "evidence": [ { "id": "Q01097", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q01097#ptm_processing" } ] }, { "glytoucan_ac": "", "type": "N-linked", "subtype": "", "site_category": "predicted", "site_seq": "N", "relation": "attached", "comment": "N-linked (GlcNAc...) asparagine", "start_pos": 542, "start_aa": "Asn", "end_pos": 542, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn542", "evidence": [ { "id": "Q01097", "database": "UniProtKB", "url": "https://www.uniprot.org/uniprot/Q01097#ptm_processing" } ] }, { "glytoucan_ac": "G05724UK", "type": "N-linked", "subtype": "", "site_category": "reported_with_glycan", "site_seq": "N", "relation": "attached", "comment": "", "start_pos": 688, "start_aa": "Asn", "end_pos": 688, "end_aa": "Asn", "residue": "Asn", "site_lbl": "Asn688", "evidence": [ { "id": "2351", "database": "GlyConnect", "url": "https://glyconnect.expasy.org/browser/proteins/2351" }, { "id": "30899004", "database": "PubMed", "url": "https://glygen.org/publication/PubMed/30899004" } ] }, { "glytoucan_ac": "G06110VR", 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Mol. Brain Res.", "date": "2002", "authors": "Matsuda K, Kamiya Y, Matsuda S, Yuzaki M", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprot/Q01097" } ], "reference": [ { "type": "PubMed", "id": "12008020", "url": "https://glygen.org/publication/PubMed/12008020" } ] }, { "title": "[Regulation of NMDA receptor function by Fyn-mediated tyrosine phosphorylation].", "journal": "Nihon shinkei seishin yakurigaku zasshi = Japanese journal of psychopharmacology", "date": "2002", "authors": "Nakazawa T, Tezuka T, Yamamoto T", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprot/Q01097" }, { "database": "iPTMnet", "id": "Q01097", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q01097" } ], "reference": [ { "type": "PubMed", "id": "12451687", "url": "https://glygen.org/publication/PubMed/12451687" } ] }, { "title": "Molecular diversity of the NMDA receptor channel.", "journal": "Nature", "date": "1992", "authors": "Araki K., Kumanishi T., Arakawa M., Mori H., Sakimura K., Meguro H., Masaki H., Mishina M., Kushiya E., Kashiwabuchi N., Kutsuwada T.", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprot/Q01097" } ], "reference": [ { "type": "PubMed", "id": "1377365", "url": "https://glygen.org/publication/PubMed/1377365" } ] }, { "title": "Specific assembly with the NMDA receptor 3B subunit controls surface expression and calcium permeability of NMDA receptors.", "journal": "J. Neurosci.", "date": "2003", "authors": "Matsuda K, Fletcher M, Kamiya Y, Yuzaki M", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprot/Q01097" } ], "reference": [ { "type": "PubMed", "id": "14602821", "url": "https://glygen.org/publication/PubMed/14602821" } ] }, { "title": "Fyn kinase-mediated phosphorylation of NMDA receptor NR2B subunit at Tyr1472 is essential for maintenance of neuropathic pain.", "journal": "The European journal of neuroscience", "date": "2005", "authors": "Abe T, Matsumura S, Katano T, Mabuchi T, Takagi K, Xu L, Yamamoto A, Hattori K, Yagi T, Watanabe M, Nakazawa T, Yamamoto T, Mishina M, Nakai Y, Ito S", "evidence": [ { "database": "iPTMnet", "id": "Q01097", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q01097" } ], "reference": [ { "type": "PubMed", "id": "16190898", "url": "https://glygen.org/publication/PubMed/16190898" } ] }, { "title": "Comprehensive identification of phosphorylation sites in postsynaptic density preparations.", "journal": "Mol. Cell. Proteomics", "date": "2006", "authors": "Trinidad JC, Specht CG, Thalhammer A, Schoepfer R, Burlingame AL", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprot/Q01097" }, { "database": "UniProtKB", "id": "G3X9V4", "url": "https://www.uniprot.org/uniprot/G3X9V4" }, { "database": "iPTMnet", "id": "Q01097", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q01097" } ], "reference": [ { "type": "PubMed", "id": "16452087", "url": "https://glygen.org/publication/PubMed/16452087" } ] }, { "title": "Brain-derived neurotrophic factor rapidly increases NMDA receptor channel activity through Fyn-mediated phosphorylation.", "journal": "Brain research", "date": "2006", "authors": "Xu F, Plummer MR, Len GW, Nakazawa T, Yamamoto T, Black IB, Wu K", "evidence": [ { "database": "iPTMnet", "id": "Q01097", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q01097" } ], "reference": [ { "type": "PubMed", "id": "17045972", "url": "https://glygen.org/publication/PubMed/17045972" } ] }, { "title": "Qualitative and quantitative analyses of protein phosphorylation in naive and stimulated mouse synaptosomal preparations.", "journal": "Mol. 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Neurosci.", "date": "2007", "authors": "Cheng K., Wang Y., Hayden M.R., Liu L., Gan L., Liu L.', Metzler M., Wang Y.T., Roder J.C., Georgiou J., Bissada N., Helm J., Wong T.P.", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprot/Q01097" } ], "reference": [ { "type": "PubMed", "id": "17329427", "url": "https://glygen.org/publication/PubMed/17329427" } ] }, { "title": "Neuregulin1 (NRG1) signaling through Fyn modulates NMDA receptor phosphorylation: differential synaptic function in NRG1+/- knock-outs compared with wild-type mice.", "journal": "The Journal of neuroscience : the official journal of the Society for Neuroscience", "date": "2007", "authors": "Bjarnadottir M, Misner DL, Haverfield-Gross S, Bruun S, Helgason VG, Stefansson H, Sigmundsson A, Firth DR, Nielsen B, Stefansdottir R, Novak TJ, Stefansson K, Gurney ME, Andresson T", "evidence": [ { "database": "iPTMnet", "id": "Q01097", "url": 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synaptic plasticity and learning.", "journal": "PLoS Biol.", "date": "2009", "authors": "Ng D, Pitcher GM, Szilard RK, Sertie A, Kanisek M, Clapcote SJ, Lipina T, Kalia LV, Joo D, McKerlie C, Cortez M, Roder JC, Salter MW, McInnes RR", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprot/Q01097" } ], "reference": [ { "type": "PubMed", "id": "19243221", "url": "https://glygen.org/publication/PubMed/19243221" } ] }, { "title": "DAPK1 interaction with NMDA receptor NR2B subunits mediates brain damage in stroke.", "journal": "Cell", "date": "2010", "authors": "Tu W, Xu X, Peng L, Zhong X, Zhang W, Soundarapandian MM, Balel C, Wang M, Jia N, Zhang W, Lew F, Chan SL, Chen Y, Lu Y", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprot/Q01097" }, { "database": "iPTMnet", "id": "Q01097", "url": "http://research.bioinformatics.udel.edu/iptmnet/entry/Q01097" } ], "reference": [ { "type": "PubMed", "id": 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"https://www.uniprot.org/uniprot/Q01097" } ], "pmid": "" }, { "name": "scaffold protein binding", "id": "GO:0097110", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097110", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprot/Q01097" } ], "pmid": "" }, { "name": "small molecule binding", "id": "GO:0036094", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0036094", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprot/Q01097" } ], "pmid": "" }, { "name": "monoatomic cation channel activity", "id": "GO:0005261", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005261", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprot/Q01097" } ], "pmid": "" }, { "name": "ionotropic glutamate receptor activity", "id": "GO:0004970", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0004970", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprot/Q01097" } ], "pmid": "" }, { "name": "extracellularly glutamate-gated ion channel activity", "id": "GO:0005234", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005234", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprot/Q01097" } ], "pmid": "" }, { "name": "interleukin-1 receptor binding", "id": "GO:0005149", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005149", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprot/Q01097" } ], "pmid": "" }, { "name": "D2 dopamine receptor binding", "id": "GO:0031749", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0031749", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprot/Q01097" } ], "pmid": "" }, { "name": "ionotropic glutamate receptor binding", "id": "GO:0035255", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0035255", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprot/Q01097" } ], "pmid": "" }, { "name": "glutamate binding", "id": "GO:0016595", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016595", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprot/Q01097" } ], "pmid": "" }, { "name": "transmitter-gated monoatomic ion channel activity involved in regulation of postsynaptic membrane potential", "id": "GO:1904315", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:1904315", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprot/Q01097" } ], "pmid": "" }, { "name": "neurotransmitter receptor activity involved in regulation of postsynaptic cytosolic calcium ion concentration", "id": "GO:0099583", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0099583", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprot/Q01097" } ], "pmid": "" }, { "name": "neurotransmitter binding", "id": "GO:0042165", 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synapse", "id": "GO:0098978", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098978", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprot/Q01097" } ], "pmid": "" }, { "name": "presynaptic active zone membrane", "id": "GO:0048787", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0048787", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprot/Q01097" } ], "pmid": "" }, { "name": "cytoplasm", "id": "GO:0005737", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005737", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprot/Q01097" } ], "pmid": "" }, { "name": "cytoskeleton", "id": "GO:0005856", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005856", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprot/Q01097" } ], "pmid": "" }, { "name": "plasma membrane", "id": "GO:0005886", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005886", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprot/Q01097" } ], "pmid": "" }, { "name": "cell surface", "id": "GO:0009986", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0009986", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprot/Q01097" } ], "pmid": "" }, { "name": "postsynaptic density", "id": "GO:0014069", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0014069", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprot/Q01097" } ], "pmid": "" }, { "name": "membrane", "id": "GO:0016020", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0016020", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprot/Q01097" } ], "pmid": "" }, { "name": "neuronal cell body", "id": "GO:0043025", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043025", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprot/Q01097" } ], "pmid": "" }, { "name": "terminal bouton", "id": "GO:0043195", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043195", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprot/Q01097" } ], "pmid": "" }, { "name": "dendritic spine", "id": "GO:0043197", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0043197", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprot/Q01097" } ], "pmid": "" }, { "name": "synapse", "id": "GO:0045202", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045202", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprot/Q01097" } ], "pmid": "" }, { "name": "lysosome", "id": "GO:0005764", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005764", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprot/Q01097" } ], "pmid": "" }, { "name": "endoplasmic reticulum membrane", "id": "GO:0005789", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005789", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprot/Q01097" } ], "pmid": "" }, { "name": "transport vesicle membrane", "id": "GO:0030658", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0030658", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprot/Q01097" } ], "pmid": "" }, { "name": "postsynapse", "id": "GO:0098794", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098794", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprot/Q01097" } ], "pmid": "" }, { "name": "late endosome", "id": "GO:0005770", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0005770", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprot/Q01097" } ], "pmid": "" }, { "name": "neuron projection", "id": "GO:0043005", "url": 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} ], "pmid": "" }, { "name": "hippocampal mossy fiber to CA3 synapse", "id": "GO:0098686", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098686", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprot/Q01097" } ], "pmid": "" }, { "name": "parallel fiber to Purkinje cell synapse", "id": "GO:0098688", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098688", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprot/Q01097" } ], "pmid": "" } ] }, { "name": "Biological Process", "total": 46, "go_terms": [ { "name": "response to ethanol", "id": "GO:0045471", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0045471", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprot/Q01097" } ], "pmid": "" }, { "name": "calcium ion transmembrane import into cytosol", "id": "GO:0097553", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0097553", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprot/Q01097" } ], "pmid": "" }, { "name": "startle response", "id": "GO:0001964", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001964", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprot/Q01097" } ], "pmid": "" }, { "name": "NMDA selective glutamate receptor signaling pathway", "id": "GO:0098989", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0098989", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprot/Q01097" } ], "pmid": "" }, { "name": "in utero embryonic development", "id": "GO:0001701", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001701", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": "https://www.uniprot.org/uniprot/Q01097" } ], "pmid": "" }, { "name": "suckling behavior", "id": "GO:0001967", "url": "https://www.ebi.ac.uk/QuickGO/term/GO:0001967", "evidence": [ { "database": "UniProtKB", "id": "Q01097", "url": 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